Canonical Allele Identifier: CA395951382

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1012172
• ClinVar RCV Id: RCV001580367
• dbSNP Id: rs2143660403
• MyVariant Identifiers: chr16:g.56368646T>C (hg19) ; chr16:g.56334734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334734T>C , CM000678.2:g.56334734T>C	GRCh38
NC_000016.9:g.56368646T>C , CM000678.1:g.56368646T>C	GRCh37
NC_000016.8:g.54926147T>C	NCBI36
NG_042800.1:g.148396T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.470T>C	ENSP00000262494.7:p.Leu157Pro
ENST00000262493.12:c.470T>C MANE Select	ENSP00000262493.6:p.Leu157Pro
ENST00000262494.12:c.470T>C	ENSP00000262494.7:p.Leu157Pro
ENST00000562316.6:c.137T>C	ENSP00000457238.2:p.Leu46Pro
ENST00000638185.1:n.685T>C
ENST00000638210.1:n.770T>C
ENST00000638705.1:c.470T>C	ENSP00000491223.1:p.Leu157Pro
ENST00000638836.1:n.380T>C
ENST00000639055.1:n.1191T>C
ENST00000639251.1:n.371T>C
ENST00000639268.1:c.229-1997T>C
ENST00000639770.1:c.508T>C	ENSP00000491999.1:n.508T>C
ENST00000640390.1:n.400T>C
ENST00000640893.1:c.309T>C	ENSP00000492677.1:p.Pro103=
ENST00000262493.10:c.470T>C	ENSP00000262493.6:p.Leu157Pro
ENST00000262494.11:c.470T>C	ENSP00000262494.7:p.Leu157Pro
ENST00000562316.5:c.209T>C	ENSP00000457238.1:p.Leu70Pro
ENST00000563440.1:c.209T>C	ENSP00000455774.1:p.Leu70Pro
ENST00000565363.5:c.344T>C	ENSP00000454728.1:p.Leu115Pro
NM_020988.2:c.470T>C	NP_066268.1:p.Leu157Pro
NM_138736.2:c.470T>C	NP_620073.2:p.Leu157Pro
XM_011523003.1:c.344T>C	XP_011521305.1:p.Leu115Pro
XM_011523003.3:c.344T>C	XP_011521305.1:p.Leu115Pro
NM_020988.3:c.470T>C MANE Select	NP_066268.1:p.Leu157Pro
NM_138736.3:c.470T>C	NP_620073.2:p.Leu157Pro